We propose to build a computer-based consultation system to aid in the diagnosis of people with concomitant vision and hearing loss. This group of diseases constitutes a representative sample of all genetic diseases and are an important subset of genetic diseases because of high health care costs, a shortage of professionals trained in diagnosis, and significant numbers of patients who require diagnosis. A diagnosis is essential for predicting the natural history of the disorder, detecting other associated malformations or complications, reducing health care costs stemming from institutionalization of patients with treatable conditions, providing a basis for genetic counseling for the patient, and planning an appropriate vocational-educational program. We plan to initially consider those syndromes with congenital onset of deaf-blindess. These patients need immediate diagnosis and medical intervention to provide adequate sensory stimulation. The project will consist of two parts. The first will be the design and construction of a computer-based system for representing the medical knowledge and modeling the clinical behavior of an expert in the genetic causes of deaf-blindness. The initial system will be developed upon the rule-based EXPERT facility for artificial intelligence research at Rutgers, but will be reprogrammed to run on local LSI-ll microcomputers during the course of the project. The second part will be the design and implementation of a database management system to contain the clinical parameters of the patients. The database will be developed upon the LSI-ll from the onset of the project. The material on patients with known diagnoses will be used as input to the consultant system for validation of the diagnostic model. Periodic internal and external review of the man-machine interface, the clinical parameters, and the diagnostic model will insure that this system will maintain its quality and its timeliness. The resulting system will be designed for the use of medical geneticists, medical students, and ultimately by primary care physicians.